Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SLC26A2

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SLC26A2

Definition : Molecular assay reagents intended to identify mutations in the solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene, located at chromosome 5q31-q34, which encodes for a protein that transports ions, particularly sulfate ions, across cell membranes. This inherited genetic mutation has been identified in patients with diastrophic dysplasia (DTD) and atelosteogenesis type 2 (AO2, also known as neonatal osseous dysplasia type I).

Entry Terms : "Epiphyseal Dysplasia Multiple Type 4 (EDM4) Gene Mutation Reagents" , "Multiple Epiphyseal Dysplasia type 4 Gene Mutation Reagents" , "Diastrophic Dwarfism Gene Mutation Reagents" , "Diastrophic Dysplasia (DTD) Gene Mutation Reagents" , "Neonatal Osseous Dysplasia Type 1 Gene Mutation Reagents" , "Atelosteogenesis Type 2 (AO2) Gene Mutation Reagents" , "Achondrogenesis Type 1B Gene Mutation Reagents" , "SLC26A2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SLC26A2"

UMDC code : 24970

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